Thursday, February 28, 2013

Please Sign the Newborn Screening Petition

Please consider signing the following petition to continue and expand the newborn screening program that can identify rare diseases when they can still be treated. If Oliver had been diagnosed when he was pre-symptomatic we would have had options that may have slowed or stopped the progression of his MLD. Please support any testing/research that will help other children avoid the horrors of rare, terminal diseases.

As always, thanks Oliver's Team!

Saturday, February 23, 2013

Breath Holding

Ollie is having a bad day. He woke up happy but almost immediately began struggling to breathe. He was on 2 liters of oxygen most of the morning and a few doses of meds to try and relax him and calm his breathing. The 2pm diazapam finally brought the labored breathing to a halt and he relaxed enough to fall asleep for two hours in the vibrating chair, his favorite place to be when not in someone's arms.

We just got him out of the bath and he held his breath a few times while we were trying to get him dry and into his pjs. Well technically BACK into his pjs since he never got dressed today. He doesn't hold his breath on purpose like he's throwing a tantrum, the episodes are a result of damage to his autonomic nervous system. Stimuli, like being moved from place to place too quickly, or being held in an uncomfortable way can cause his system to go haywire, it overreacts to the stimulus and he breath holds, these episodes are distressing enough (he turns purple and looks like he's choking) but they also lead to seizures about 80% of the time. So once we see that he's holding his breath we know seizure activity isn't far behind. We try to distract him to snap him out of the vicious cycle, sometimes it works and he'll let out a big scream before calming down, but more often than not it doesn't work. It just happens: stimulus, followed by upset expression on his face, breath hold, seizure, post seizure scream, crying, crying then becomes the uncomfortable stimulus, breath hold, seizure, post seizure scream, cry...

So now a simple thing like putting him into the car, or taking him out of the bath can lead to him having several seizures and sleeping them off for hours like he is right now.

My poor boy, I'm so sorry. Life is so cruel to you.

Wednesday, February 20, 2013

A family in Utah recently had 3 of their 5 children diagnosed with MLD. It's simply devastating. Here is a News story about their heartbreaking situation.
And here is their family blog if you are interested in following their story. Two of the children are undergoing bone marrow transplants, and they are still looking for a match for their son.

Campbell Family Blog

Ollie woke up with a fever again and then slept all day. Even when the fever was gone, he kept sleeping. He was awake for 15-20 minutes at a time, but seemed so dazed and out of it. Hopefully tomorrow is a more awake day.

Thursday, February 7, 2013

The past week in photos

Ollie is feeling much better after his bout with pneumonia.

A radio station donated Mumford and Sons tickets to the family so Chris and his brother Greg went to see them. They had a great time.

While the boys were at the concert the girls hung out with Oliver. Here is Auntie Angie and Auntie Jess with Ollie.

Ollie has grown so quickly the past few months. His 2T pants are starting to look like capris and his shirts are showing a little midriff! A few generous people have dropped off hand-me-downs (and brand new stuff!) Thank you so much!

And we went to the adorable Kidz Korner in Brookfield and found some super cute shirts. They are so Oliver.

Then today Oliver got his second round of Botox injections in his legs. He gets them to keep the spasticity in his legs minimal and increase his every day comfort. The treatment is given every 3-6 months, his last treatment was the first week of September and the difference in his tight muscles is still amazing. Here he is in the office, sleeping peacefully with no idea that a needle is going to be jabbed 4 times into his calves. :( And I mean JABBED! The Doctor said he has "tough skin". Poor baby.

And here he is getting the injections. He was so tough. He cried, but I think your average adult would have cried more...

Then he had a strange reaction to the medicine that didn't happen last time. Hs legs got all rashy and red. They kept us there to monitor him, especially focusing on his lungs. Apparently one of the risks with Botox injections is that it can spread and the paralysis properties can impact respiration, even stop breathing completely! Well he was completely fine, and we went home half hour later to prepare for this snow...

We are slightly north of Danbury. Yikes.

Thank you so much to everyone who sent coupons. It is so much fun to get them in the mail! I really was 5 seconds behind the mailman each day to see if any came! (I know, that is really nerdy, but hey, it's the little things in life) Next week I am getting 8 free toothpastes thanks to you guys. My stockpile is starting to look amazing.

Thank you to my wonderful friends at JPS who continue to send dinners each week. Chris and I loved all the soup from the annual "Soup-er Bowl"!

Friday, February 1, 2013

Doing much better

Finally! The antibiotics started working and he's feeling much better. Our boy is such a fighter!

- Posted using BlogPress from my iPad